A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989911



Internal ID12630950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162288916..162406432hg38UCSC Ensembl
Innerchr6:162709948..162827464hg19UCSC Ensembl
Innerchr6:162629938..162747454hg18UCSC Ensembl
Innerchr6:162680359..162797875hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38117517
hg19117517
hg18117517
hg17117517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752097
Supporting Variants
SamplesBEC_768
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989911
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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